| Variant ID | 846 |
|---|---|
| Entrez Gene ID | 84970 |
| Gene | C1orf94 (GeneCards) |
| Location | hg19 1:34643638-34643638
hg38 1:34178037-34178037 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.34643638 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 83 |
| Amino acid changes in protein | W > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2671 |
| CADD Raw score (version 1.3) | 1.597324 (Deleterious) |
| FATHMM raw prediction score | 0.78084 (Tolerated) |
| SIFT score | 0.396 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | 0.31 (Tolerated) |
| MetaSVM score | -1.044 (Tolerated) |
| MetaLR score | 0.076 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.583 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.642 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.444 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.093 |
| Deleterious probability by iFish2 | 0.1091 (Neutral) |
| Deleterious probability by DeFine | 0.9122 (Deleterious) |
| Entrez Gene ID | 84970 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C1orf94 (GeneCards) |
| Number of variants in C1orf94 in this database | 5 (view all the variants) |
| Full name | chromosome 1 open reading frame 94 |
| Band | 1p35.1 |
| Other IDs | Vega: OTTHUMG00000004012 HGNC: HGNC:28250 Ensembl: ENSG00000142698 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |